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    Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy
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    1. ClingenBaseline 21 Oct 2026

      Supplementary Material 4

      Case M-22: Japanese

      DiseaseAssertion: idiopathic cardiomyopathy (HCM and DCM)

      CasePreviousTesting: Clinical evaluation, chest radiography, electrocardiography, echocardiography, cardiac catheterization, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1)

      CaseGenotypingMethod: 8 sarcomeric genes amplified from genomic DNA via PCR then screened using bidirectional direct sequencing

      Variant: NM_000257.3(MYH7):c.2333A>G (p.Asp778Gly)

      ClinVar: 14100, https://www.ncbi.nlm.nih.gov/clinvar/variation/14100/

      gnomAD: n/a

      Individual CaseInfo CMP DiseaseAssertion FullPreviousTesting NoInheritanceAssertion ClinVarID:14100 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00380-016-0920-0